Noonan syndrome

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Definition

Noonan syndrome is a genetic disorder that prevents normal development in various parts of the body. A child may be affected by Noonan syndrome in various ways: unusual facial characteristics, short stature, heart defects, other physical abnormalities and problems, and mental retardation.

The cause of Noonan syndrome is a mutation in one of two genes responsible for making a specific type of protein that plays an important role in the development of the heart, blood cells, bones and other tissues. Noonan syndrome is acquired when a child inherits a copy of an affected gene from a parent. It can also occur as a spontaneous mutation in a child, meaning there's no family history of the disease.

There's no cure for Noonan syndrome, and treatment focuses on managing the disease's symptoms and complications. Growth hormone has been used successfully to treat short stature in some people who have Noonan syndrome.

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Symptoms